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Effects of TM6SF2 E...
Effects of TM6SF2 E167K on hepatic lipid and very low-density lipoprotein metabolism in humans.
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- Borén, Jan, 1963 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Wallenberglaboratoriet,Institute of Medicine, Department of Molecular and Clinical Medicine,Wallenberg Laboratory
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- Adiels, Martin, 1976 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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- Björnson, Elias, 1988 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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Matikainen, Nina (author)
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Söderlund, Sanni (author)
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Rämo, Joel T (author)
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- Ståhlman, Marcus, 1975 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Wallenberglaboratoriet,Institute of Medicine, Department of Molecular and Clinical Medicine,Wallenberg Laboratory
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Ripatti, Puetaru (author)
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Ripatti, Samuli (author)
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Palotie, Aarno (author)
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- Mancina, Rosellina Margherita (author)
- Gothenburg University,Göteborgs universitet,Wallenberglaboratoriet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Wallenberg Laboratory,Institute of Medicine, Department of Molecular and Clinical Medicine
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Hakkarainen, Antti (author)
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- Romeo, Stefano, 1976 (author)
- Gothenburg University,Göteborgs universitet,Wallenberglaboratoriet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Wallenberg Laboratory,Institute of Medicine, Department of Molecular and Clinical Medicine
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Packard, Chris j (author)
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Taskinen, Marja-Riitta (author)
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(creator_code:org_t)
- 2020-12-17
- 2020
- English.
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In: JCI insight. - : American Society for Clinical Investigation. - 2379-3708. ; 5:24
- Related links:
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http://insight.jci.o...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Non-alcoholic fatty liver disease (NAFLD) is characterized by hepatic lipid accumulation. The transmembrane 6 superfamily member 2 (TM6SF2) E167K genetic variant associates with NAFLD and with reduced plasma triglyceride levels in humans. However, the molecular mechanisms underlying these associations remain unclear. We hypothesized that TM6SF2 E167K affects hepatic very low-density lipoprotein (VLDL) secretion, and studied the kinetics of apolipoprotein B100 (apoB100) and triglyceride metabolism in VLDL in homozygous subjects. In 10 homozygote TM6SF2 E167K carriers and 10 matched controls, we employed stable-isotope tracer and compartmental modeling techniques to determine apoB100 and triglyceride kinetics in the two major VLDL subfractions: large triglyceride-rich VLDL1 and smaller, less triglyceride-rich VLDL2. VLDL1-apoB100 production was markedly reduced in homozygote TM6SF2 E167K carriers compared to controls. Likewise, VLDL1-triglyceride production was 35% lower in the TM6SF2 E167K carriers. In contrast, the direct production rates for VLDL2-apoB100 and triglyceride were not different between carriers and controls. In conclusion, the TM6SF2 E167K genetic variant was linked to a specific reduction in hepatic secretion of large triglyceride-rich VLDL1. The impaired secretion of VLDL1 explains the reduced plasma triglyceride concentration, and provides a basis for understanding the lower risk of cardiovascular disease associated with the TM6SF2 E167K genetic variant.Trial registration: Clinical Trials NCT04209816.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Keyword
- Hepatology
- Lipoproteins
- Metabolism
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Borén, Jan, 1963
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Adiels, Martin, ...
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Björnson, Elias, ...
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Matikainen, Nina
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Söderlund, Sanni
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Rämo, Joel T
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show more...
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Ståhlman, Marcus ...
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Ripatti, Puetaru
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Ripatti, Samuli
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Palotie, Aarno
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Mancina, Roselli ...
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Hakkarainen, Ant ...
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Romeo, Stefano, ...
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Packard, Chris j
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Taskinen, Marja- ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cardiac and Card ...
- Articles in the publication
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JCI insight
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University of Gothenburg